SVSaudiVarKBSaudi Variant Knowledge Base
Research release · QC validated
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Variant profile

c.583delG

c.583delG · SaudiVarKB evidence summary derived from retained literature mentions.

1Variant mentions
1Publications
2Associated gene records
0Associated phenotype records

Associated gene records

Co-mentioned in the same publications
GeneIdentifier / contextArticlesMentions
EXT1HGNC:351211
EXT2HGNC:351311

Associated phenotype records

Co-mentioned in the same publications

No retained phenotype associations.

Associated population records

Co-mentioned in the same publications
PopulationIdentifier / contextArticlesMentions
Saudi ArabiaCohort 2211

Supporting publications

1 records
  1. 2021Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses.Orphanet journal of rare diseasesPubMed ↗
Data & methodsCitation & contactSystem status
Developed by Dr Babajan Banaganapalli. For full data access, contact bioinfo.bb@gmail.com.
SaudiVarKB is a research resource and is not intended for clinical diagnosis or treatment decisions.